Varaico: Literature-Extracted Genetic Variants

Gene:NEFL
Variant:p.R23W
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NEFL

NM_006158.5:p.R23W

Associated Papers

Sequencing of neurofilament genes identified NEFH Ser787Arg as a novel risk variant of sporadic amyotrophic lateral sclerosis in Chinese subjects.

Lin F et al.

Bmc Medical Genomics, 2021

34511133 (PubMed )
Supplement: 12920_2021_1073_MOESM2_ESM.xlsx › Rare_variants
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."